Article
Endocrinology & Metabolism
Yan-song Zheng, Sheng-yong Dong, Yan Gong, Jia-hong Wang, Fei Wang, Qiang Zeng
Summary: This study evaluated the diagnostic criteria for subclinical hypothyroidism (SCH) and found that an elevated TSH in combination with normal levels of other thyroid hormones is necessary for the diagnosis of SCH. Furthermore, it suggests that a new threshold for TSH should be identified based on the distribution characteristics of TSH in the Chinese population.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Clinical Neurology
Giulio Gadaleta, Guido Urbano, Chiara Brusa, Rossella D'Alessandro, Enrica Rolle, Ilaria Cavallina, Alessio Mattei, Fulvia Ribolla, Claudia Raineri, Stefano Pidello, Liliana Vercelli, Federica S. Ricci, Tiziana E. Mongini
Summary: The clinical characteristics of adults with DMD include mechanical ventilation, swallowing and nutritional issues, and bone density alterations. Other issues include respiratory infections, gastrointestinal symptoms, metabolic acidosis, psychiatric symptoms, and chronic pain. Patients have a negative perception of their physical health but a more positive assessment of their mental health.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Gal Cohen, Atalia Shtorch-Asor, Shay Ben-Shahar, Racheli Goldfarb-Yaacobi, Meirav Kaiser, Revital Rosenfeld, Mika Vinovezky, Dana Irge, Yael Furman, Dafni Reiss, Shira Litz-Philipsborn, Rivka Sukenik-Halevy
Summary: A nationwide carrier screening for Duchenne muscular dystrophy (DMD) was conducted in Israel, revealing that most carriers have no family history of the disease, suggesting the need for adjustment in screening methods.
PRENATAL DIAGNOSIS
(2022)
Article
Clinical Neurology
Shiny Thomas, Kristin M. Conway, Olushola Fapo, Natalie Street, Katherine D. Mathews, Joshua R. Mann, Paul A. Romitti, Aida Soim, Christina Westfield, Deborah J. Fox, Emma Ciafaloni
Summary: This study aimed to assess the time to diagnosis for Duchenne muscular dystrophy (DMD) and found that the interval between the first signs of DMD and diagnosis remains unchanged, resulting in missed opportunities.
Article
Clinical Neurology
Stefanie Meyer, Silke Kaulfuss, Sabrina Zechel, Karsten Kummer, Ali Seif Amir Hosseini, Marielle Sophie Ernst, Jens Schmidt, Silke Pauli, Jana Zschuentzsch
Summary: This study presents a diagnostic approach for clinically suspected hereditary muscular dystrophy by combining advanced Next Generation Sequencing with thorough phenotype assessment. It demonstrates the challenges in interpreting variants of unknown significance and highlights the importance of individualized diagnostic procedures in accurate diagnosis.
FRONTIERS IN NEUROLOGY
(2022)
Article
Computer Science, Interdisciplinary Applications
Daniel Franco-Barranco, Zudi Lin, Won-Dong Jang, Xueying Wang, Qijia Shen, Wenjie Yin, Yutian Fan, Mingxing Li, Chang Chen, Zhiwei Xiong, Rui Xin, Hao Liu, Huai Chen, Zhili Li, Jie Zhao, Xuejin Chen, Constantin Pape, Ryan Conrad, Luke Nightingale, Joost de Folter, Martin L. Jones, Yanling Liu, Dorsa Ziaei, Stephan Huschauer, Ignacio Arganda-Carreras, Hanspeter Pfister, Donglai Wei
Summary: This paper presents the results of the MitoEM challenge on mitochondria 3D instance segmentation from electron microscopy images, along with a new scoring system. Despite some methods being compared favorably, there are still errors in segmenting mitochondria with complex morphologies.
IEEE TRANSACTIONS ON MEDICAL IMAGING
(2023)
Review
Cell Biology
Shanshan Yao, Zihao Chen, Yuanyuan Yu, Ning Zhang, Hewen Jiang, Ge Zhang, Zongkang Zhang, Baoting Zhang
Summary: Duchenne muscular dystrophy is a lethal neuromuscular disorder caused by the absence of dystrophin protein, with no cure currently available. The standard of care involves glucocorticoids treatments for symptom relief. Therapeutic strategies focus on restoring dystrophin function and targeting downstream pathological changes like inflammation and fibrosis.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Zhenming Lu, Li Gong, Yandong Ren, Yongjiu Chen, Zhongkai Wang, Liqin Liu, Haorong Li, Xianqing Chen, Zhenzhu Li, Hairong Luo, Hui Jiang, Yan Zeng, Yifan Wang, Kun Wang, Chen Zhang, Haifeng Jiang, Wenting Wan, Yanli Qin, Jianshe Zhang, Liang Zhu, Wei Shi, Shunping He, Bingyu Mao, Wen Wang, Xiaoyu Kong, Yongxin Li
Summary: Analysis of 11 flatfish genomes indicates that Pleuronectoidei and Psettodoidei are not a monophyletic group. Genomic and transcriptomic data suggest that the WNT and RA pathways played a role in the evolution of the specialized body of flatfish.
Editorial Material
Genetics & Heredity
Elena Pegoraro
Summary: DMD is experiencing a resurgence as the first muscular dystrophy with identified disease gene and personalized treatment options, yet challenges persist in achieving genetic diagnosis for some patients with normal multiplex ligation-dependent probe amplification and exomic sequencing results.
NEUROLOGY-GENETICS
(2021)
Review
Clinical Neurology
Ariane Veilleux Carpentier, Nikolaus R. McFarland
Summary: This review discusses the clinical presentation and treatment of progressive supranuclear palsy (PSP), and focuses on the application and limitations of the 2017 Movement Disorders Society PSP criteria. There is significant overlap between different variants of PSP and the severity and predominant symptoms of the disease evolve over time. The differential diagnosis of PSP is continuously evolving and includes other tauopathies, neurodegenerative, genetic, autoimmune, and infectious disorders. Guidelines for clinical management of PSP patients have recently been published.
CURRENT OPINION IN NEUROLOGY
(2023)
Article
Genetics & Heredity
Komal M. Patel, Arpan D. Bhatt, Krati Shah, Bhargav N. Waghela, Ramesh J. Pandit, Harsh Sheth, Chaitanya G. Joshi, Madhvi N. Joshi
Summary: This study demonstrates the application of next-generation sequencing for diagnosing muscular dystrophies, which can detect single nucleotide variants and copy number variants in a single test, providing a time-saving and cost-effective diagnostic method. The total diagnosis rate using the amplicon panel was 70.73%, showing the utility of panel-based diagnosis for high throughput, affordable, and time-saving diagnostic strategy.
FRONTIERS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Miriam Hiebeler, Simone Thiele, Peter Reilich, Guenther Bernert, Maggie C. Walter
Summary: Duchenne muscular dystrophy (DMD) is a genetic disorder that causes progressive muscular weakness and loss of ambulation. Collecting and evaluating epidemiological data is crucial for early diagnosis and disease management. Data collection in Germany is done through the TREAT-NMD DMD patient registry, while data collection in Austria was conducted through an online survey of the patient's caregivers.
SCIENTIFIC REPORTS
(2023)
Review
Biochemistry & Molecular Biology
Fawzy A. Saad, Gabriele Siciliano, Corrado Angelini
Summary: Dystrophinopathies are X-linked muscular disorders caused by mutations in the Dystrophin gene. Diagnosis methods include creatine kinase assay and genetic analysis, and treatment options include glucocorticoids and gene therapy. The development of exon skipping drugs has provided new hope for the treatment of Duchenne muscular dystrophy.
Review
Pharmacology & Pharmacy
Mohsan Iftikhar, Justin Frey, Md Jasimuddin Shohan, Sohail Malek, Shaker A. Mousa
Summary: Many neuromuscular diseases are genetically inherited, with two common ones being Duchenne Muscular Dystrophy and Spinal Muscular Atrophy. Patients with these diseases often require supportive therapy, nutrition, and respiratory assistance, with FDA-approved drug therapies available to treat specific types of DMD and SMA.
PHARMACOLOGY & THERAPEUTICS
(2021)
Article
Genetics & Heredity
Amihood Singer, Annemieke Aartsma-Rus, Julia Grinshpun-Cohen, Lena Sagi-Dain
Summary: The study summarizes the results of the first year of implementation of pan-ethnic screening testing for Duchenne muscular dystrophy (DMD) and discusses the challenges that follow. The study found clinically significant results in 82 cases, uncertain clinical significance in 80 cases, and false positive results in 373 cases initially identified as single-exon deletions. Interpreting population-based DMD carrier screening requires additional genetic testing methods and ethical considerations.
GENETICS IN MEDICINE
(2023)
Article
Clinical Neurology
Stefano Tozza, Dario Bruzzese, Daniele Severi, Emanuele Spina, Rosa Iodice, Lucia Ruggiero, Raffaele Dubbioso, Aniello Iovino, Francesco Aruta, Maria Nolano, Lucio Santoro, Fiore Manganelli
Summary: The perception of disturbances that mostly impact on CMT1A patients' daily life changes over the lifetime and with degree of disability, with weakness in lower limbs being the most important disturbance and weakness in upper limbs having the lowest impact.
NEUROLOGICAL SCIENCES
(2022)
Review
Clinical Neurology
Roberta Costa, Maria Teresa Rodia, Serafina Pacilio, Corrado Angelini, Giovanna Cenacchi
Summary: Limb-girdle muscular dystrophies (LGMDs) are a clinically and genetically heterogeneous group of diseases. This review focuses on LGMD D2 TNPO3-related disease, caused by mutations in the TNPO3 gene, and describes the clinical features, genetic and histopathological findings, as well as hypotheses for the underlying pathological mechanisms.
FRONTIERS IN NEUROLOGY
(2022)
Article
Medicine, Research & Experimental
Sara Missaglia, Daniela Tavian, Corrado Angelini
Summary: Mutations in the PNPLA2 gene cause an inborn error of neutral lipid metabolism, known as neutral lipid storage disease with myopathy (NLSDM). We report a case of a 30-year-old woman with NLSDM who was asymptomatic until age 23, when she started developing symptoms.
EUROPEAN JOURNAL OF TRANSLATIONAL MYOLOGY
(2022)
Review
Endocrinology & Metabolism
Corrado Angelini, Alberto Burlina, Nenad Blau, Carlos R. Ferreira
Summary: This article summarizes the associations of signs and symptoms in 358 inherited metabolic diseases presenting with myopathies, aiming to create and maintain a comprehensive list of clinical and metabolic differential diagnoses.
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Biochemistry & Molecular Biology
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Filosto, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E. Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M. Santorelli, Roberta Battini
Summary: Through a multistep integration of clinical and molecular data, about 3% of patients carrying pathogenic collagen VI variants could be identified in a real-world diagnostic scenario of heterogeneous neuromuscular conditions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Giorgia Coratti, Martina Ricci, Anna Capasso, Adele D'amico, Valeria Sansone, Claudio Bruno, Sonia Messina, Federica Ricci, Tiziana Mongini, Michela Coccia, Gabriele Siciliano, Elena Pegoraro, Mara Turri, Massimiliano Filosto, Giacomo Comi, Riccardo Masson, Lorenzo Maggi, Irene Bruno, Maria Grazia D'Angelo, Antonio Trabacca, Veria Vacchiano, Maria Donati, Isabella Simone, Lucia Ruggiero, Antonio Varone, Lorenzo Verriello, Angela Berardinelli, Caterina Agosto, Antonella Pini, Maria Antonietta Maioli, Luigia Passamano, Filippo Brighina, Nicola Carboni, Matteo Garibaldi, Riccardo Zuccarino, Delio Gagliardi, Sabrina Siliquini, Stefano Previtali, Domenica Taruscio, Stefania Boccia, Maria Carmela Pera, Marika Pane, Eugenio Mercuri
Summary: This study aimed to assess the prevalence of SMA and treatment prescription in Italy. An online survey was conducted, and data on 1255 SMA patients were collected. The majority of patients (85%) were receiving one of the available treatments.
Review
Clinical Neurology
Rosa Iodice, Gabriella Aceto, Lucia Ruggiero, Emanuele Cassano, Fiore Manganelli, Raffaele Dubbioso
Summary: Multiple sclerosis (MS) is a chronic disease characterized by the gradual loss of daily functioning due to nerve demyelination. Rehabilitation therapy is essential in managing the disease, with various physical and cognitive methods available. Exercise-based therapies have shown benefits for MS patients, improving physical symptoms and reducing the risk of cardiovascular disease. Other rehabilitation techniques such as cranial stimulation and robot-assisted gait therapy are also being explored. A multidisciplinary care team and regular reassessment are recommended, along with goal setting and measurable outcomes.
MULTIPLE SCLEROSIS AND RELATED DISORDERS
(2023)
Review
Neurosciences
Stefano Tozza, Emanuele Spina, Aniello Iovino, Rosa Iodice, Raffaele Dubbioso, Lucia Ruggiero, Maria Nolano, Fiore Manganelli
Summary: Chronic dysimmune neuropathies are a group of neuropathies that are mediated by the immune system. Antibody-related neuropathies such as anti-MAG neuropathy, multifocal motor neuropathy, and neuropathies related to immune attack against paranodal antigens have distinct pathomechanisms, clinical features, and treatment response compared to chronic inflammatory demyelinating polyradiculoneuropathy and its variants. This review provides an overview of the antibody-mediated neuropathies, highlighting the pathomechanisms, clinical characteristics, electrophysiological and biochemical features, and treatment response, aiming to guide the search for antibodies in chronic dysimmune neuropathies.
Article
Cell Biology
Nayane dos Santos Brito Silva, Andreia da Silva Souza, Heloisa de Souza Andrade, Raphaela Neto Pereira, Camila Ferreira Bannwart Castro, Nicolas Vince, Sophie Limou, Michel Satya Naslavsky, Mayana Zatz, Yeda Aparecida de Oliveira Duarte, Celso Teixeira Mendes-Junior, Erick da Cruz Castelli
Summary: HLA-B is a highly variable gene in the human genome, encoding a key molecule for antigen presentation and immune cell modulation. However, previous studies focused mainly on coding regions, and the variability of introns and regulatory regions remains underexplored. In this study, a bioinformatics pipeline was used to assess HLA-B variability in a large population sample, revealing a high number of variable sites and geographically structured haplotype distribution. The findings suggest that HLA-B gene diversity is influenced by both population admixture and regional differences. This resource can enhance HLA imputation accuracy and advance our understanding of HLA-B genetic diversity in human populations.
Article
Biochemistry & Molecular Biology
Nelida Ines Noguera, Daniela Tavian, Corrado Angelini, Francesca Cortese, Massimiliano Filosto, Matteo Garibaldi, Sara Missaglia, Ariela Smigliani, Alessandra Zaza, Elena Maria Pennisi
Summary: Neutral lipid storage disease type M (NLSD-M) is an ultra-rare, autosomal recessive disorder that causes severe skeletal and cardiac muscle damage and lipid accumulation in all body tissues. Triheptanoin has been shown to induce an anaplerotic effect in NLSD-M fibroblasts, indicating potential for new therapeutic strategies.
Editorial Material
Biochemistry & Molecular Biology
Solaf Mohamed Elsayed, Enza Torre, Daniela Tavian, Laura Moro, Corrado Angelini, Tawhida Y. Abdel Ghaffar, Khalid Zalata, Enas Ezzeldein Fahmy, Sara Missaglia
Review
Biochemistry & Molecular Biology
Fawzy A. Saad, Gabriele Siciliano, Corrado Angelini
Summary: Dystrophinopathies are X-linked muscular disorders caused by mutations in the Dystrophin gene. Diagnosis methods include creatine kinase assay and genetic analysis, and treatment options include glucocorticoids and gene therapy. The development of exon skipping drugs has provided new hope for the treatment of Duchenne muscular dystrophy.
Article
Multidisciplinary Sciences
Amanda Faria Assoni, Thiago Giove Mitsugi, Rene Wardenaar, Raiane Oliveira Ferreira, Elisa Helena Farias Jandrey, Gabriela Machado Novaes, Isabela Fonseca de Oliveira Granha, Petra Bakker, Carolini Kaid, Mayana Zatz, Floris Foijer, Oswaldo Keith Okamoto
Summary: This study found that high expression of VAPB in medulloblastoma is associated with decreased patient survival, and VAPB is required for normal proliferation of medulloblastoma cells.
SCIENTIFIC REPORTS
(2023)
Article
Cell Biology
Venceslas Douillard, Nayane dos Santos Brito Silva, Sonia Bourguiba-Hachemi, Michel S. Naslavsky, Marilia O. Scliar, Yeda A. O. Duarte, Mayana Zatz, Maria Rita Passos-Bueno, Sophie Limou, Pierre-Antoine Gourraud, Elise Launay, Erick C. Castelli, Nicolas Vince
Summary: Human genomics has advanced rapidly, driving genome-wide association studies (GWASs). However, SNP-based GWASs are limited in capturing the polymorphism of HLA genes. This study evaluated the accuracy of using the 1000 Genomes data as a reference panel to impute HLA genotypes in admixed individuals and highlighted the importance of using genetically specific models for imputation.
Article
Clinical Neurology
Christoph Bachmann, Martina Franchini, Luuk R. van den Bersselaar, Nick Kruijt, Nicol C. Voermans, Karlijn Bouman, Erik-Jan Kamsteeg, Karl Christian Knop, Lucia Ruggiero, Lucio Santoro, Yoram Nevo, Jo Wilmshurst, John Vissing, Michael Sinnreich, Daniele Zorzato, Francesco Muntoni, Heinz Jungbluth, Francesco Zorzato, Susan Treves
Summary: This study investigates changes in transcript and microRNA expression in muscles from patients with genetically heterogeneous congenital myopathies. The results identify RYR1, ATPB2B, and miRNA-22 as common transcripts whose expression is decreased in muscles from congenital myopathy patients. The study also provides potential biomarkers for monitoring disease progression and response to pharmacological treatments in patients with congenital myopathies.
BRAIN COMMUNICATIONS
(2022)